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Cited by 354Prion Diseases and Protein MisfoldingAmyloidosis: Diagnosis, Treatment, OutcomesSleep and Wakefulness Research

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Familial and sporadic fatal insomnia

Montagna, Pasquale, Gambetti, Pierluigi, Cortelli, Pietro, Lugaresi, Elio·2003·The Lancet Neurology
DOI 10.1016/s1474-4422(03)00323-5
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Abstract

Familial fatal insomnia (FFI)--a hereditary prion disease caused by a mutation at codon 178 of the prion-protein (PrP) gene (PRNP) that leads to a D178N substitution in the protein--and its sporadic form, sporadic fatal insomnia (SFI), have similar disease phenotypes. Both disorders have clinical features of disrupted sleep (loss of sleep spindles and slow-wave sleep and enacted dreams during rapid-eye-movement sleep), autonomic hyperactivation, and motor abnormalities (myoclonus, ataxia, dysarthria, dysphagia, and pyramidal signs). PET shows pronounced thalamic and limbic hypometabolism that becomes more widespread in later stages. Neuropathological assessment reveals severe neuronal loss and astrogliosis of the anterior medial thalamus and inferior olives, with later cerebral cortical and cerebellar involvement. Accumulation of an isoform of protease-resistant PrP fragment in FFI distinct from that found in a familial form of Creutzfeldt-Jakob disease with the same D178N mutation, shows the effect of the polymorphism at codon 129 of PRNP on phenotypic expression and the possibility of distinct prion "strains" with diverse pathological potential. Intriguing clinicopathological correlations in FFI and SFI suggest a role for the thalamolimbic system in the regulation of sleep and other circadian functions.

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  • Fatal familial or sporadic insomnia leads to dementia and death within months or years.

    “fatal familial or sporadic insomnia is a progressively worsening state of sleeplessness that leads to dementia and death within months or years (7).”

    From Sleep Drives Metabolite Clearance from the Adult Brain (2013) · cites this paper as [7]

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Metadata

Authors
Montagna, P., Gambetti, P., Cortelli, P., & Lugaresi, E.
Affiliations
  • University of Bologna (IT)
  • Case Western Reserve University (US)
  • University of Modena and Reggio Emilia (IT)
Corresponding author
Lugaresi, Elio
ORCID
Venue
The Lancet Neurology
Publisher
Elsevier BV
Published
2003-03
Volume
2
Issue
3
Pages
167-176
ISSN
1474-4422 (ISSN-L)
DOI
10.1016/s1474-4422(03)00323-5
OpenAlex
W2069064263
Cited by
354
References
2
Citations by year
2026: 6 · 2025: 9 · 2024: 11 · 2023: 31 · 2022: 11 · 2021: 17 · 2020: 11 · 2019: 19 · 2018: 15 · 2017: 22 · 2016: 26 · 2015: 13 · 2014: 16 · 2013: 21 · 2012: 16
FWCI
1.00
Type
journal article
Language
en
Open access
closed
Licence
Locations
  • The Lancet Neurology (publishedVersion)
  • PubMed (publishedVersion)
Funders
European Commission (BMH4-CT96-0856)
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Prion Diseases and Protein Misfolding
  • Health Sciences › Medicine › Internal Medicine › Amyloidosis: Diagnosis, Treatment, Outcomes
  • Life Sciences › Neuroscience › Cognitive Neuroscience › Sleep and Wakefulness Research
Keywords
prion disease, prion protein, thalamic hypometabolism, inferior olive, PRNP codon 129 polymorphism, prion strains, sleep spindles, sleep regulation, clinicopathological correlation
MeSH terms
Prion Proteins, Amyloid, Brain, Diagnosis, Differential, Diagnostic Imaging, DNA Mutational Analysis, Electroencephalography, Humans, Nerve Degeneration, Prions, Protein Precursors, Thalamus, Insomnia, Fatal Familial

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